[Analysis of chromosome regions 8q11.1-q13.3, 1q32-q34.3 and 14q31.1-q13.3 in a Chinese family with congenital preauricular fistula]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Aug;32(4):472-5. doi: 10.3760/cma.j.issn.1003-9406.2015.04.004.
[Article in Chinese]


Objective: To identify the candidate chromosomal region for congenital preauricular fistula (CPF) through analysis of an affected Chinese family.

Methods: Conventional linkage analysis using short tandem repeats (STR) markers was performed to investigate three chromosomal regions 8q11.1-q13.3, 1q32-q34.3 and 14q31.1-q31.3.

Results: None of 16 STRs could attain a LOD score of more than -2.0 (theta=0). Therefore, the three regions were all excluded as the candidate region for the disease.

Conclusion: CPF features high genetic heterogeneity. The family may have a causative gene elsewhere. Whole-genome-based study is needed to identify its genetic etiology.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Asian People / genetics
  • China
  • Chromosomes, Human, Pair 1 / genetics*
  • Chromosomes, Human, Pair 14 / genetics*
  • Chromosomes, Human, Pair 8 / genetics*
  • Craniofacial Abnormalities / genetics*
  • Female
  • Humans
  • Lod Score
  • Male
  • Microsatellite Repeats
  • Pedigree

Supplementary concepts

  • Preauricular Fistulae, Congenital